rs2916464

Homo sapiens
T>A / T>C
TMEM128 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0404 (12114/29946,GnomAD)
C=0445 (12975/29118,TOPMED)
C=0456 (2286/5008,1000G)
C=0384 (1479/3854,ALSPAC)
C=0374 (1385/3708,TWINSUK)
chr4:4247893 (GRCh38.p7) (4p16.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.4247893T>A
GRCh38.p7 chr 4NC_000004.12:g.4247893T>C
GRCh37.p13 chr 4NC_000004.11:g.4249620T>A
GRCh37.p13 chr 4NC_000004.11:g.4249620T>C

Gene: TMEM128, transmembrane protein 128(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM128 transcript variant 1NM_001297551.1:c.N/AIntron Variant
TMEM128 transcript variant 2NM_001297552.1:c.N/AIntron Variant
TMEM128 transcript variant 3NM_032927.3:c.N/A5 Prime UTR Variant
TMEM128 transcript variant X1XM_005248034.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.474C=0.526
1000GenomesAmericanSub694T=0.500C=0.500
1000GenomesEast AsianSub1008T=0.579C=0.421
1000GenomesEuropeSub1006T=0.656C=0.344
1000GenomesGlobalStudy-wide5008T=0.544C=0.456
1000GenomesSouth AsianSub978T=0.520C=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.616C=0.384
The Genome Aggregation DatabaseAfricanSub8714T=0.500C=0.500
The Genome Aggregation DatabaseAmericanSub832T=0.470C=0.530
The Genome Aggregation DatabaseEast AsianSub1614T=0.518C=0.482
The Genome Aggregation DatabaseEuropeSub18484T=0.652C=0.347
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.595C=0.404
The Genome Aggregation DatabaseOtherSub302T=0.580C=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.554C=0.445
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.626C=0.374
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs29164640.00082alcohol dependence20201924

eQTL of rs2916464 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:4249620TMEM128ENSG00000132406.7T>C1.3235e-7-330Cerebellum
Chr4:4249620TMEM128ENSG00000132406.7T>C4.5287e-4-330Cerebellar_Hemisphere

meQTL of rs2916464 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.